Reply: Expanding the clinical and genetic spectrum of PCYT2-related disorders.
作者信息
Vaz Frédéric M, McDermott John H, Engelen Marc, Banka Siddharth
机构信息
Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Department of Clinical Chemistry, Amsterdam Gastroenterology Endocrinology Metabolism, 1105 AZ Amsterdam, The Netherlands.
Manchester Centre for Genomics Medicine, St Mary's Hospital, Manchester University Hospital Foundation Trust, Health Innovation Manchester, Manchester, M13 9WL, UK.
出版信息
Brain. 2020 Sep 1;143(9):e77. doi: 10.1093/brain/awaa230.
Abstract
摘要
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Expanding the clinical and genetic spectrum of PCYT2-related disorders.拓展与PCYT2相关疾病的临床和基因谱。
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Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.PCYT2 基因突变会破坏醚脂的生物合成，导致一种复杂的遗传性痉挛性截瘫。
Brain. 2019 Nov 1;142(11):3382-3397. doi: 10.1093/brain/awz291.
3
EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans.EPT1（硒蛋白 I）对于人类神经发育和维持血浆烯醇化酶至关重要。
J Lipid Res. 2018 Jun;59(6):1015-1026. doi: 10.1194/jlr.P081620. Epub 2018 Mar 2.
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A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.EPT1（SELENOI）的一种突变是肯尼迪途径磷脂生物合成新紊乱的基础。
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The ether lipid-deficient mouse: tracking down plasmalogen functions.醚脂缺乏小鼠：探寻缩醛磷脂的功能
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